Our results highlight that the radiological features of bGB are not homogenous and can indicate 2 potential subtypes based on their origins. Further studies are mandatory, but CC-type and Hemispheric-type exhibit distinct clinical backgrounds, outcomes, and molecular features.

1 day ago

Journal

BRAF (B-raf proto-oncogene) • TERT (Telomerase Reverse Transcriptase) • H3-3A (H3.3 Histone A)

BRAF mutation • TERT mutation • TERT promoter mutation

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers. (PubMed, Int J Mol Sci)

In IDH-wildtype glioblastoma patients, a history of other precedent cancer was associated with worse overall survival (OS), while re-operation and bevacizumab therapy increased OS...Nine patients received molecular targeted therapy, and the results were evaluated. The search for molecular changes associated with tumor growth and progression is important for diagnosis and choice of therapy.

1 day ago

Journal

EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ATRX (ATRX Chromatin Remodeler)

TP53 mutation • PIK3CA mutation • IDH1 mutation • PTEN deletion • PTEN mutation • TERT mutation • IDH mutation + Chr del(1p) + Chr del(19q)

Avastin (bevacizumab)

High Prevalence of TBC1D12 5'UTR Mutations in Anaplastic Thyroid Cancer. (PubMed, Thyroid)

TBC1D12 5'UTR mutations were significantly associated with older age at diagnosis (60 vs. 46 for wild type, p = 0.003), pathological T3/T4 stage (85.7% vs. 37.7%, p = 0.010), and advanced tumor stages (85.7% vs. 32.5%, p = 0.006) in PTC. This preliminary study for the first time showed a high prevalence of TBC1D12 5'UTR mutations in ATC and indicated an association between TBC1D12 mutation and aggressive characteristics of PTC, which needs to be confirmed in large cohort studies.

1 day ago

Journal • Tumor mutational burden

TMB (Tumor Mutational Burden) • TERT (Telomerase Reverse Transcriptase) • ADGRG6 (Adhesion G Protein-Coupled Receptor G6) • SDHD (Succinate Dehydrogenase Complex Subunit D)

BRAF V600E • TMB-H • BRAF V600 • TERT mutation • TERT promoter mutation

TERT promoter mutations in gliomas: Molecular roles in tumorigenesis, metastasis, diagnosis, prognosis, therapeutic targeting, and drug resistance. (PubMed, Biochim Biophys Acta Rev Cancer)

It also discusses the recent advancements in molecular diagnostics, illustrating the promise of TERT mutations as diagnostic tools and prognostic indicators. This review collectively aims to contribute to a deeper understanding of TERT promoter mutations in gliomas, offering a foundation for future research endeavors and paving the way for innovative strategies in glioma management.

4 days ago

Review • Journal

TERT (Telomerase Reverse Transcriptase)

TERT mutation • TERT promoter mutation

11d

The absence of telomerase leads to immune response and tumor regression in zebrafish melanoma. (PubMed, Cell Rep)

We propose that telomerase is required for melanoma in zebrafish, albeit at later stages of progression, to sustain tumor growth while avoiding immune rejection and regression. Thus, the absence of telomerase restricts melanoma through tumor-autonomous mechanisms (cell-cycle arrest, apoptosis, and melanocyte differentiation) and a non-tumor-autonomous mechanism (immune rejection).

11 days ago

Journal

TERT (Telomerase Reverse Transcriptase)

TERT mutation

13d

Molecular and immune landscape of hepatocellular carcinoma for therapeutic development. (PubMed, J Liver Cancer)

Novel clinical trial designs guided by predictive biomarkers have been proposed to enable their efficient and cost-effective evaluation. These new developments collectively facilitate clinical translation of personalized molecular-targeted therapies in HCC and substantially improve prognosis of HCC patients.

13 days ago

Journal • IO biomarker

TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase) • AFP (Alpha-fetoprotein) • GPC3 (Glypican 3)

TP53 mutation • TERT mutation

14d

Clinicopathological and molecular characteristics of papillary thyroid carcinoma in adolescent and young adult patients. (PubMed, Endocr J)

In conclusion, PTC in AYA patients differed from PTC in older patients. Particularly, BRAF p.V600E and TERT promoter mutations in AYA with PTC were less frequently observed than in older adults.

14 days ago

Journal

BRAF (B-raf proto-oncogene) • TERT (Telomerase Reverse Transcriptase)

BRAF V600E • BRAF V600 • TERT mutation • TERT promoter mutation

14d

Immunohistochemical Algorithm for the Diagnosis and Classification of Hepatocellular Carcinomas With TERT, TP53 and CTNNB1 Mutation (clinicaltrials.gov)

P=N/A, N=100, Recruiting, IRCCS Azienda Ospedaliero-Universitaria di Bologna

14 days ago

New trial

TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)

TERT mutation

16d

Choroid plexus tumors in adults: a retrospective mono-institutional study. (PubMed, Neurol Sci)

We confirm that CPT can occur in adults and are mostly grade 1 tumors located in the ventricular system. The surgical approach is the gold standard, although 76% of clinical worsening occurred, often transient. Adjuvant treatment was limited to higher grade CPT; however, no consensus has already been achieved about adjuvant therapy.

16 days ago

Retrospective data • Journal

TP53 (Tumor protein P53)

TP53 mutation • TERT mutation

17d

The molecular landscape of 227 adult granulosa cell tumors of the ovary: Insights into the progression from primary to recurrence. (PubMed, Lab Invest)

One tumor exhibited MSI-High status and a TMB of 19 mut/Mb. Our results indicate the need for further investigation into the role of FOXO1 as a potential prognostic marker in AGCTs.

17 days ago

Journal • MSi-H Biomarker

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • TERT (Telomerase Reverse Transcriptase) • KMT2D (Lysine Methyltransferase 2D) • CHEK2 (Checkpoint kinase 2) • DICER1 (Dicer 1 Ribonuclease III) • FOXL2 (Forkhead Box L2)

TP53 mutation • KRAS mutation • MSI-H/dMMR • PIK3CA mutation • CHEK2 mutation • TERT mutation • TERT promoter mutation

19d

Establishment of a novel benign meningioma cell line spontaneously immortalized under hypoxic conditions. (PubMed, Hum Cell)

Cultured under hypoxic conditions, this cell line showed fewer characteristics of cellular senescence, such as morphological changes, IL-6 secretion, and lower senescence-associated b-galactosidase activity, compared to the same cell line cultured under 20% O2 conditions. This immortalized non-transgenic cell line appears to reflect the characteristics of a genuine benign meningioma, potentially allowing the identification of new therapeutic targets and the development of novel therapies for benign meningiomas.

19 days ago

Preclinical • Journal

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • IL6 (Interleukin 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)

CDKN2A deletion • TERT mutation

21d

The value of NGS-based multi-gene testing for differentiation of benign from malignant and risk stratification of thyroid nodules. (PubMed, Front Oncol)

Nodules with RAS mutations (NRAS, KRAS, HRAS) and TP53 inactivating mutations were considered to be in the intermediate-risk group, while those with non-pathogenic mutations (negative and variants of uncertain significance) were placed in the low-risk group. When combined with cytopathology, NGS increases the sensitivity of diagnosing benign and malignant thyroid nodules, and the reference is useful for patient risk stratification.

21 days ago

Journal • Next-generation sequencing

KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RET (Ret Proto-Oncogene) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase)

TP53 mutation • BRAF V600E • KRAS mutation • NRAS mutation • BRAF V600 • RET fusion • RAS mutation • RET mutation • HRAS mutation • TERT mutation • BRAF V600E + TERT mutation • TERT promoter mutation

21d

TERTmonitor Efficacy and Performance in Detecting Mutations by Droplet Digital PCR. (PubMed, Genes (Basel))

The findings highlight the usefulness of TERTmonitor for cancer surveillance either in real-time qPCR or ddPCR platforms.

21 days ago

Journal

TERT (Telomerase Reverse Transcriptase)

TERT mutation • TERT 124C>T

22d

A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor. (PubMed, Virchows Arch)

DICER1MUT and DICER1WT tumors showed different mRNA expression profiles. The FOXL2 mutation is less common in these tumors and is mutually exclusive with the DICER1 mutation.

22 days ago

Journal • PD(L)-1 Biomarker • IO biomarker

HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • AR (Androgen receptor) • TERT (Telomerase Reverse Transcriptase) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • NOTCH2 (Notch 2) • CDK6 (Cyclin-dependent kinase 6) • CA9 (Carbonic anhydrase 9) • MUC4 (Mucin 4, Cell Surface Associated) • DICER1 (Dicer 1 Ribonuclease III) • CD99 (CD99 Molecule) • PRKCA (Protein Kinase C Alpha) • FOXL2 (Forkhead Box L2) • HNF1A (HNF1 Homeobox A)

PD-L1 negative • PTEN expression • TERT mutation • TERT promoter mutation • CTLA4 expression • MUC4 expression • CA9 expression • CDK6 expression

22d

Novel Fibroblast Growth Factor Receptor 3-Fatty Acid Synthase Gene Fusion in Recurrent Epithelioid Glioblastoma Linked to Aggressive Clinical Progression. (PubMed, Curr Oncol)

Postoperative treatment included radiotherapy and temozolomide...The recurrence was managed with regorafenib and bevacizumab, though complications like hand-foot syndrome and radiation necrosis arose...The novel FGFR3-FASN fusion suggests potential implications for GBM recurrence and lipid metabolism. Further studies are warranted to explore FGFR3-FASN's role in GBM and its therapeutic targeting.

22 days ago

Journal

PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FASN (Fatty acid synthase)

IDH2 mutation • PTEN deletion • PTEN mutation • CDKN2A deletion • CDKN2A mutation • TERT mutation • TERT promoter mutation

Avastin (bevacizumab) • temozolomide • Stivarga (regorafenib)

25d

Endocervical adenocarcinoma with a micropapillary component: a clinicopathologic analysis in the setting of current WHO classification. (PubMed, Virchows Arch)

We conclude that the micropapillary structure is an indicator for unfavorable clinical outcomes in HPVA, and can aid in the prognostic stratification of Silva pattern C EAC. The presence of HER2 amplification and specific gene mutations raise the possibility for targeted therapy in the future.

25 days ago

Journal

HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • STK11 (Serine/threonine kinase 11) • ARID1A (AT-rich interaction domain 1A) • TERT (Telomerase Reverse Transcriptase)

TP53 mutation • HER-2 amplification • PIK3CA mutation • ARID1A mutation • STK11 mutation • TERT mutation

27d

Hepatocellular carcinoma: Histological and molecular classifications (PubMed, Ann Pathol)

In conclusion, the morphological heterogeneity of HCC, directly linked to molecular heterogeneity, is associated with prognosis. This strongly supports the specification of the different HCC subtypes in our reports.

27 days ago

Journal

TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)

TP53 mutation • TERT mutation

27d

Risk factors for and molecular pathology characteristics of systemic metastasis of adult cerebral glioblastoma: A pooled individual patient data analysis and systematic review. (PubMed, J Neurol Surg A Cent Eur Neurosurg)

Conclusion In young adult GBM patients, especially those ≤ 40 years of age with long survival, attention should be given to the development of systemic metastases. Metastasis can be the result of multiclonal gene mutations, in which proliferation- and invasion-related gene changes, such as oncogene or tumor suppressor gene mutations and epithelial-mesenchymal transition-related genes, may play an important role in metastasis.

27 days ago

Review • Journal

TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • TERT (Telomerase Reverse Transcriptase)

TP53 mutation • PTEN mutation • RB1 mutation • TERT mutation • IDH wild-type • TERT promoter mutation

29d

Olıgosarcoma: A Rare Case Report Wıth Dıstınct Features. (PubMed, Int J Surg Pathol)

In our patient, the sarcomatous component exhibited p53 and OLIG2 immunohistochemical expression. Molecular analysis revealed IDH and TERT mutations, as well as 1p/19q and CDKN2A deletions.

29 days ago

Journal

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • OLIG2 (Oligodendrocyte Transcription Factor 2)

CDKN2A deletion • TERT mutation

29d

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses. (PubMed, Neuro Oncol)

Glioblastoma undergoes heterogeneous genetic, epigenetic, and cellular evolution that underlies prognostically different treatment responses.

29 days ago

Journal

EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase)

CDKN2A deletion • CDKN2A mutation • TERT mutation • IDH wild-type • TERT promoter mutation

temozolomide

29d

The role of genetic and epigenetic modifications as potential biomarkers in the diagnosis and prognosis of thyroid cancer. (PubMed, Front Oncol)

Therefore, a good understanding regarding the genetic and epigenetic modifications is not only essential for the diagnosis and prognosis of TC, but also for the development of novel therapeutics. In this review, most of the major TC-related genetic and epigenetic modifications and their potential as biomarkers for TC diagnosis and prognosis have been extensively discussed.

29 days ago

Review • Journal

BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • RET (Ret Proto-Oncogene) • TERT (Telomerase Reverse Transcriptase) • PPARG (Peroxisome Proliferator Activated Receptor Gamma) • PAX8 (Paired box 8) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked) • PI3K (Phosphoinositide 3-kinases)

TP53 mutation • BRAF mutation • RAS mutation • RET mutation • RET rearrangement • TERT mutation • TERT rearrangement

30d

Mechanistic basis of atypical TERT promoter mutations. (PubMed, Nat Commun)

In agreement, atypical TERTp mutations co-occur with canonical driver mutations in large cancer cohorts and arise subclonally specifically on the TERTp driver mutant chromosome homolog of melanoma cells treated with UV light in vitro. Our study gives an in-depth view of TERTp mutations in cancer and provides a mechanistic explanation for atypical TERTp mutations.

30 days ago

Journal

TERT (Telomerase Reverse Transcriptase)

TERT mutation • TERT promoter mutation

30d

Skin metastasis of papillary thyroid carcinoma: A case report and literature review. (PubMed, Oncol Lett)

Skin metastasis of PTC should be suspected in patients who develop an upper body skin lesion with a history of PTC, even without evidence of disease metastasis. For high-risk patients with skin metastasis of PTC with BRAF and TERT gene mutations, long-term surveillance for recurrence should be recommended in cases with a poor prognosis, and further research of these cases should be conducted in the future to optimize surgical and medical care.

30 days ago

Review • Journal

BRAF (B-raf proto-oncogene) • TERT (Telomerase Reverse Transcriptase)

BRAF V600E • BRAF V600 • TERT mutation

Detection of genetic mutations in 855 cases of papillary thyroid carcinoma by next generation sequencing and its clinicopathological features. (PubMed, Diagn Pathol)

NGS technology can comprehensively analyze the genetic mutations in PTC patients, which provides important prompts for the occurrence, development, diagnosis and treatment of PTC. In addition, BRAF V600E mutation, RET fusion and TERT mutation are associated with a number of high-risk clinicopathological features. Detection of genetic mutations in PTC patients by NGS is of great significance.

1 month ago

Journal • Next-generation sequencing

BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • RET (Ret Proto-Oncogene) • TERT (Telomerase Reverse Transcriptase)

BRAF V600E • PIK3CA mutation • BRAF V600 • RET fusion • RET mutation • TERT mutation

NRG-BN010: Testing the Addition of the Immune Therapy Drugs, Tocilizumab and Atezolizumab, to Radiation Therapy for Recurrent Glioblastoma (clinicaltrials.gov)

P2, N=53, Active, not recruiting, National Cancer Institute (NCI) | Recruiting --> Active, not recruiting

1 month ago

Enrollment closed

EGFR (Epidermal growth factor receptor) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase)

EGFR amplification • TERT mutation • IDH wild-type • TERT promoter mutation

Tecentriq (atezolizumab) • Actemra IV (tocilizumab)

Comprehensive genomic profiling for advanced hepatocellular carcinoma in clinical practice. (PubMed, Hepatol Int)

The results of the present study suggested that druggable gene alterations may provide useful information not only in proposing alternative treatment after standard of care but also in selecting second-line targeted treatments after immunotherapy for patients with advanced HCC.

1 month ago

Journal • IO biomarker • Metastases

TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • ARID1A (AT-rich interaction domain 1A) • TERT (Telomerase Reverse Transcriptase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)

TP53 mutation • ARID1A mutation • CTNNB1 mutation • MYC mutation • TERT mutation

Diagnostic challenges in complicated case of glioblastoma. (PubMed, Pathol Oncol Res)

The choice of the best combination of methods is based on cost, time required, staff expertise, and laboratory equipment. This integrated strategy could contribute directly to tangible improvements in the diagnosis, prognosis, and prediction of the therapeutic responses of patients with brain tumors.

1 month ago

Journal

TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase)

TP53 mutation • TERT mutation

Age-, sex-, and grade-associated molecular differences in a multi-institutional cohort of choroid plexus tumors (SNO 2024)

This study provides comprehensive genomic profiling of CPTs, highlighting distinct genetic alterations associated with different histological grades and patient demographics. These findings may inform future research and therapeutic strategies targeting specific molecular pathways in CPTs.

1 month ago

Clinical

TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • TERT (Telomerase Reverse Transcriptase) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • DAXX (Death-domain associated protein)

TP53 mutation • PTEN mutation • MYCN amplification • TERT mutation • TERT promoter mutation

FoundationOne® CDx

Current status of cancer genomic profiling (CGP) tests in brain tumor treatment - complementing brain tumor pathological diagnosis with CGP- (SNO 2024)

Molecular diagnostics through CGP testing served as an aid in diagnosis according to WHO2021. Cases where drug suggestions were feasible underwent treatment with targeted molecular therapies and checkpoint inhibitor. We experienced cases where hereditary cancer syndromes such as Lynch syndrome were diagnosed through the detection of germline pathogenic variants.

1 month ago

BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MSH6 (MutS homolog 6)

BRAF V600E • TMB-H • BRAF V600 • IDH1 R132H • TERT mutation • IDH wild-type • IDH1 R132 • IDH mutation + BRAF V600E

FoundationOne® CDx • OncoGuide™ NCC Oncopanel System

Machine Vision-Detected Peritumoral Lymphocytic Aggregates are Associated with Disease-Free Survival in Papillary Thyroid Carcinoma Patients. (PubMed, Lab Invest)

Combining the lymphocyte features in and around the tumor yielded a statistically significantly improvement in prognostic performance (HR = 3.17 (95% CI: 3.02, 3.32)) on training and were independently evaluated against 62 patients outside TCGA-THCA with HR = 2.44 (95% CI: 2.19, 2.69). Multivariable Cox-regression analysis on the validation set revealed that the density of peritumoral and intratumoral lymphocytes were prognostic independent of histological subtype with a C-index = 0.815.

1 month ago

Journal

TERT (Telomerase Reverse Transcriptase)

TERT mutation

Mitochondrial Proteome Defined Molecular Pathological Characteristics of Oncocytic Thyroid Tumors. (PubMed, Endocr Pathol)

Moreover, IDH2 is significantly overexpressed in OCA compared to OA highlighting its potential as a biomarker for differential diagnosis of oncocytic tumors and malignancy. These findings improve the understanding of oncocytic thyroid tumors molecular pathology and suggest IDH2 as a valuable marker for clinical management.

1 month ago

Journal

NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked)

NRAS mutation • HRAS mutation • TERT mutation • TERT promoter mutation

A Molecular Urine Assay to Detect Recurrences During Surveillance of High-Risk Non-Muscle Invasive Bladder Cancer. (PubMed, Bladder Cancer)

This study validates the performance of a previously developed urine assay in an unselected cohort of HR-NMIBC patients under surveillance. With a robust sensitivity/specificity and a strong anticipatory effect, this assay proves a useful adjunct ready for evaluation in a future randomized controlled trial.

1 month ago

Journal

FGFR3 (Fibroblast growth factor receptor 3) • TERT (Telomerase Reverse Transcriptase)

FGFR3 mutation • TERT mutation

2ms

Association Between Gross Features and Coexistence of BRAFV600E and TERT Promoter Mutations in Papillary Thyroid Carcinomas: A Combined Analysis Incorporating Clinicopathologic Features. (PubMed, Thyroid)

The BRAFV600E and TERT-p double mutation in PTC was significantly associated with relatively old age, larger tumor size, lobulated configuration in tumor margin, papillary excrescences on the cut surface, solid-cut surface, ETE, and high Ki-67 LI. These features are suggestive of the presence of the double mutation and should be analyzed at the molecular level in patients with PTC.

2 months ago

Journal

BRAF (B-raf proto-oncogene) • TERT (Telomerase Reverse Transcriptase)

BRAF V600E • BRAF V600 • TERT mutation • TERT promoter mutation • TERT mutation + BRAF V600E

2ms

The Clinical and Molecular Landscape of Rosette-Forming Glioneuronal Tumors. (PubMed, Biomedicines)

This study concludes that while current treatment strategies focus on surgical resection, integrating molecular diagnostics and targeted therapies may be essential for managing recurrent or refractory RGNTs. Future research should explore the impact of various gene mutations on tumor behavior and their correlation with clinical outcomes, to optimize individualized therapeutic strategies and improve patient survival and quality of life.

2 months ago

Review • Journal

PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • FGFR1 (Fibroblast growth factor receptor 1) • TERT (Telomerase Reverse Transcriptase) • SYP (Synaptophysin) • GFAP (Glial Fibrillary Acidic Protein)

PIK3CA mutation • FGFR1 mutation • TERT mutation

2ms

Utilization of Microfluidic Droplet-Based Methods in Diagnosis and Treatment Methods of Hepatocellular Carcinoma: A Review. (PubMed, Genes (Basel))

Here, we examine and compare these microfluidic droplet-based methods, exploring their advantages and limitations in liver cancer research. These technologies provide new opportunities to understand liver cancer biology, diagnosis, treatment, and prognosis, contributing to scientific efforts in combating this challenging disease.

2 months ago

Review • Journal

TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • TGFB1 (Transforming Growth Factor Beta 1)

TP53 mutation • TERT mutation • TERT promoter mutation

2ms

Clinical and Histopathological Features of Thyroid Cancer with TERT Promoter Molecular Alterations in Isolation Versus with Concurrent Molecular Alterations: A Multicenter Retrospective Study. (PubMed, Cancers (Basel))

Thyroid carcinomas harboring both TERTp and concurrent molecular alterations are associated with more aggressive features and a higher likelihood of being classified as high-risk. In contrast, TERTp mutations occurring alone do not confer an elevated risk.

2 months ago

Retrospective data • Journal

BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TERT (Telomerase Reverse Transcriptase) • RAS (Rat Sarcoma Virus) • GNAS (GNAS Complex Locus) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked) • TG (Thyroglobulin)

BRAF V600E • BRAF V600 • TERT mutation

2ms

Oncogenic mutations in the TP53 and PI-3 kinase/AKT pathway are independent predictors of survival for advanced thyroid cancer: Analysis from the Molecular Screening and Therapeutics (MoST) program. (PubMed, Surgery)

TP53 and/or phosphatidylinositol-3 kinase/AKT pathway mutations correlated with overall survival independently of histotype in patients with advanced thyroid cancer. Comprehensive genomic profiling has potential to inform prognosis, as well as identifying treatment targets for patients with advanced thyroid cancer.

2 months ago

Journal • Metastases

BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase)

TP53 mutation • BRAF V600E • BRAF V600 • TERT mutation • TERT promoter mutation

2ms

Genetic Factors Associated with Clinical Response in Melanoma Patients Treated with Talimogene Laherparapvec: A Single-Institution Retrospective Analysis. (PubMed, Ann Surg Oncol)

This work describes the experience using T-VEC in melanoma at a single institution and highlights the presence of TERT promotor mutations as a possible driver of clinical response.

2 months ago

Retrospective data • Journal • IO biomarker

TERT (Telomerase Reverse Transcriptase)

TERT mutation

Imlygic (talimogene laherparepvec)

2ms

Cell Senescence and the Genetics of Melanoma Development. (PubMed, Genes Chromosomes Cancer)

The largest functional set of susceptibility variants, typically with high penetrance, includes CDKN2A, RB1, and telomerase reverse transcriptase (TERT) mutations, associated with attenuation of cell senescence. We discuss the mechanisms of action of these gene sets in the biology and progression of nevi and melanoma.

2 months ago

Review • Journal

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • TERT (Telomerase Reverse Transcriptase)

TERT mutation

2ms

Mesenchymal-type genetic mutations are likely pre-requisite for glioblastoma multiforme to metastasize outside the central nervous system: an original case series and systematic review of the literature. (PubMed, World Neurosurg)

In sum, there is strong evidence that GBMs acquire novel mutations to survive outside the CNS. In some cases, tumor cells likely mutate after seeding scalp tissue during surgery, and in others, they mutate and spread without surgery. Future studies and genetic profiling of primary and metastatic lesions may help uncover the mechanisms of spread.

2 months ago

Review • Journal • Metastases

TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • CDK4 (Cyclin-dependent kinase 4) • VIM (Vimentin)

TP53 mutation • PTEN mutation • NF1 mutation • TERT mutation • VIM expression • CDK4 mutation

2ms

Management of follicular thyroid carcinoma. (PubMed, Eur Thyroid J)

Multi-tyrosine kinase inhibitors such as sorafenib and lenvatinib are utilized for treating RAI-refractory FTCs. In addition, given that renin-angiotensin system (RAS) is the most common driver gene for FTC, it is also important to develop RAS inhibitors.

2 months ago

Review • Journal

TERT (Telomerase Reverse Transcriptase)

TERT mutation • TERT promoter mutation

sorafenib • Lenvima (lenvatinib)